A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666291



Internal ID9932396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178959815..178964321hg38UCSC Ensembl
Outerchr5:178959444..178964691hg38UCSC Ensembl
Innerchr5:178386816..178391322hg19UCSC Ensembl
Outerchr5:178386445..178391692hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg385248
hg195248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1065e199
Supporting Variantsessv6169324, essv6066415, essv5870270, essv6586638, essv6540399, essv6149788, essv5463743, essv5919958, essv5456415, essv5435997, essv6008423, essv5933632, essv6270732, essv5672469, essv5634942, essv5921158, essv6229783, essv5424033, essv6206643, essv5922787, essv6339679, essv5527585, essv5769240, essv6417068
SamplesHG00650, HG00592, HG00671, HG00449, HG00448, HG00634, HG00590, HG00419, HG00543, HG00557, HG00701, HG00436, HG00583, HG00500, HG00708, HG00692, HG00635, HG00476, HG00565, HG00620, HG00513, HG00578, HG00421, HG00628
Known GenesZNF454
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666291
Frequency
Sample Size1151
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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