Variant Details

Variant: esv2678394

Internal ID

9597813

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr1:44555505..44556590	hg38	UCSC Ensembl
	chr1:45021177..45022262	hg19	UCSC Ensembl

Cytoband

1p34.1

Allele length

Assembly	Allele length
hg38	1086
hg19	1086

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv41e199

Supporting Variants

essv6558010, essv5643142, essv5817553, essv6478630, essv6350336, essv6067844, essv6554707, essv6337305, essv6195965, essv6015533, essv6580872, essv5859680, essv5921022, essv5779410, essv6243414, essv6027950, essv5840762, essv6571864, essv6084209, essv5570674, essv5765996, essv5790287, essv6233046, essv5428513, essv6030045, essv6188813, essv6039165, essv6218542, essv6263659, essv5538190, essv6475062, essv5412483, essv6296880, essv5533087, essv6308982, essv5877985, essv6039467, essv5643247, essv5928885, essv6112689, essv5693742, essv5489230, essv5445518, essv5689414, essv6324389, essv6249425, essv6318350, essv6363213, essv6358349, essv5557514, essv6489005, essv5651375, essv6572271, essv6265524, essv5567169, essv6077996, essv5556908, essv6267574, essv6482661, essv5584840, essv6453684, essv5944106, essv5815622, essv5561753, essv6597243, essv5600552, essv5540281, essv5788418, essv6474996, essv6520680, essv6083766, essv5588133, essv6468152, essv5669386, essv6567021, essv5995472, essv6555778, essv5998202, essv5428262, essv6172081, essv5592952, essv5995849, essv6167678, essv5888580, essv5650138, essv6188069, essv5755196, essv6046354, essv5821154, essv6196482, essv5977014, essv5737763, essv6017441, essv6500966

Samples

NA19055, HG01462, NA19909, NA18621, NA19066, HG01052, NA19332, NA18545, NA19057, NA18596, NA20332, NA19377, NA18616, NA19443, NA20356, NA19067, HG00641, NA19373, NA18940, NA18550, NA18597, HG00689, NA18982, NA18635, NA19916, NA19062, NA18574, NA19313, HG00512, NA18874, NA19719, NA19371, NA19471, NA19317, NA19722, NA19002, NA19189, HG00178, NA19985, HG00419, NA18539, HG00464, NA19007, HG00543, NA18544, NA19247, HG00443, NA18538, NA19347, HG00653, HG00577, NA19391, NA19081, NA18637, HG00500, NA19788, NA18534, HG00708, HG00692, NA19461, NA19084, NA18853, NA18553, NA19059, NA18963, NA19682, NA19469, NA19625, NA18634, NA18541, NA19012, HG00476, NA18961, NA18543, NA19256, NA18564, HG00565, NA19473, NA19072, NA19010, NA19334, NA19439, NA19470, NA19360, NA18615, NA19078, NA19472, NA19716, NA20510, NA18873, NA19900, NA19661, NA18624, NA19463

Known Genes

RNF220

Method

Merging

Analysis

No reference, merging analysis

Platform

Merging

Comments

Reference

1000_Genomes_Consortium_Phase_1

Pubmed ID

23128226

Accession Number(s)

esv2678394

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	94
Observed Complex	0
Frequency	n/a