Variant Details

Variant: esv3641114

Internal ID

6681199

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr17:68567011..68569101	hg38	UCSC Ensembl
Inner	chr17:68567019..68569094	hg38	UCSC Ensembl
Outer	chr17:68567004..68569109	hg38	UCSC Ensembl
	chr17:66563152..66565242	hg19	UCSC Ensembl
Inner	chr17:66563160..66565235	hg19	UCSC Ensembl
Outer	chr17:66563145..66565250	hg19	UCSC Ensembl

Cytoband

17q24.2

Allele length

Assembly	Allele length
hg38	2091
hg19	2091

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv15730561, essv15730562, essv15730550, essv15730553, essv15730526, essv15730552, essv15730566, essv15730547, essv15730558, essv15730557, essv15730527, essv15730565, essv15730551, essv15730538, essv15730534, essv15730555, essv15730529, essv15730537, essv15730531, essv15730539, essv15730536, essv15730530, essv15730541, essv15730544, essv15730556, essv15730564, essv15730533, essv15730540, essv15730525, essv15730523, essv15730545, essv15730548, essv15730535, essv15730554, essv15730542, essv15730532, essv15730524, essv15730569, essv15730543, essv15730563, essv15730549, essv15730546, essv15730559, essv15730568, essv15730567, essv15730528, essv15730560

Samples

HG03136, NA19207, HG02477, HG03121, NA19445, NA19214, NA19209, HG02799, NA19149, HG02006, HG03133, HG03419, HG03111, HG03099, HG01958, NA19355, HG02053, NA19914, HG02981, HG03127, NA19471, NA19096, HG03130, NA19247, NA19153, NA19206, NA19102, HG02558, HG03096, NA19131, HG03118, NA19141, HG03352, HG03303, HG03045, HG03172, NA18879, HG03259, NA19160, HG02476, NA19198, HG03117, NA19473, NA19185, NA19200, NA18519, NA19922

Known Genes

FAM20A

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3641114

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	47
Observed Complex	0
Frequency	n/a