A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671318



Internal ID9590737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:72050196..72075720hg38UCSC Ensembl
Outerchr16:72050039..72075873hg38UCSC Ensembl
Innerchr16:72084095..72109619hg19UCSC Ensembl
Outerchr16:72083938..72109772hg19UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg3825835
hg1925835
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv504e199
Supporting Variantsessv6564332, essv6116665, essv6067105, essv5427478, essv6081333, essv6198921, essv5896229, essv5794051
SamplesHG00654, HG00663, HG00635, NA18632, NA18543, HG00607, HG00656, HG01082
Known GenesHP, HPR
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671318
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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