Variant Details

Variant: esv2675462

Internal ID

9594881

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr5:32085198..32085693	hg38	UCSC Ensembl
	chr5:32085304..32085799	hg19	UCSC Ensembl

Cytoband

5p13.3

Allele length

Assembly	Allele length
hg38	496
hg19	496

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5491932, essv6361664, essv5800888, essv6189805, essv5590775, essv5701527, essv6229398, essv5928012, essv5889722, essv5467631, essv5458364, essv6011722, essv6180013, essv6571349, essv6187000, essv6197061, essv5581970, essv6140795, essv6215768, essv5715555, essv6236604, essv5884156, essv5475522, essv5504857, essv5715115, essv5540053, essv6170225, essv5469252, essv5838200, essv5866420, essv5857452, essv5676953, essv5399246, essv5717270, essv5780737, essv5448119, essv6433886, essv6050519, essv6182561, essv5897724, essv5444024, essv6534821, essv6535641, essv6355132, essv6250741, essv6481789, essv5413449, essv5732711, essv6293881, essv6414188, essv5926643, essv5715103, essv5665988, essv5880847, essv6101251, essv5797772, essv5405983, essv6583913

Samples

NA19701, NA19700, NA19703, NA19359, NA18486, NA19355, NA18545, NA19098, NA12750, NA07346, NA18944, NA19201, NA18489, NA19119, NA19131, NA18960, NA19138, NA18498, NA18949, NA19383, NA12156, NA19239, NA19209, NA19985, NA19200, NA18951, NA19908, NA19210, NA12489, NA19707, NA19403, NA19462, NA19152, NA19982, NA18981, NA12249, NA12144, NA19625, HG01107, NA18909, NA11881, NA19834, NA19108, NA19147, NA19712, NA19435, NA19240, NA19144, NA19835, NA20281, NA19472, NA19093, NA20289, NA18873, NA19116, NA19429, NA18487, NA18577

Known Genes

PDZD2

Method

Merging

Analysis

No reference, merging analysis

Platform

Merging

Comments

Reference

1000_Genomes_Consortium_Phase_1

Pubmed ID

23128226

Accession Number(s)

esv2675462

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	58
Observed Complex	0
Frequency	n/a