A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2675462

Internal ID9594881
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32085198..32085693hg38UCSC Ensembl
chr5:32085304..32085799hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5491932, essv5590775, essv5581970, essv5884156, essv6011722, essv5701527, essv6215768, essv6236604, essv6101251, essv5467631, essv5880847, essv5715555, essv5504857, essv5715115, essv5715103, essv5889722, essv6229398, essv6433886, essv5780737, essv5732711, essv5399246, essv5469252, essv6250741, essv6361664, essv5458364, essv5800888, essv5866420, essv5926643, essv5897724, essv5838200, essv5448119, essv5405983, essv6197061, essv5413449, essv6180013, essv6534821, essv5444024, essv6189805, essv6187000, essv6571349, essv5928012, essv6481789, essv6535641, essv5717270, essv6355132, essv6414188, essv6293881, essv5797772, essv6182561, essv6050519, essv5540053, essv5676953, essv5857452, essv6583913, essv5475522, essv6140795, essv6170225, essv5665988
SamplesNA20281, NA11881, NA12489, NA19152, NA19625, NA12249, NA12750, NA19712, NA18951, NA19209, NA19093, NA19435, NA18545, NA19359, NA18489, NA19144, NA19210, NA19834, NA19108, NA19701, NA19355, NA19472, NA18873, NA19147, NA18949, HG01107, NA19383, NA19982, NA19239, NA18960, NA19429, NA19908, NA19985, NA19835, NA19700, NA12144, NA07346, NA19703, NA18498, NA18486, NA19119, NA19098, NA18487, NA19707, NA19131, NA19462, NA19138, NA18909, NA19201, NA19403, NA12156, NA19116, NA20289, NA18577, NA18944, NA19240, NA18981, NA19200
Known GenesPDZD2
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2675462
Sample Size1151
Observed Gain0
Observed Loss58
Observed Complex0

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