A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667801



Internal ID9933906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:37849976..37855082hg38UCSC Ensembl
Outerchr19:37849605..37855452hg38UCSC Ensembl
Innerchr19:38340616..38345722hg19UCSC Ensembl
Outerchr19:38340245..38346092hg19UCSC Ensembl
Cytoband19q13.13
Allele length
AssemblyAllele length
hg385848
hg195848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv639e199
Supporting Variantsessv5719512, essv6411449, essv6070600, essv5747981, essv6572741, essv6004317, essv5883372, essv5517937, essv5634493, essv6011068, essv6303396, essv6075628, essv5499895, essv5545213, essv6455597, essv5834901
SamplesHG00096, HG00249, HG00151, HG00150, HG00261, HG00127, HG00251, HG00122, HG00158, HG00106, HG00262, HG00160, HG00260, HG00246, HG00254, HG00256
Known GenesLOC100631378
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667801
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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