A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663031



Internal ID9929136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:20667651..20669743hg38UCSC Ensembl
chr7:20707274..20709366hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg382093
hg192093
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6126146, essv5637184, essv5458228, essv6153642, essv6510751, essv6450094, essv5473129, essv5854154, essv6492329, essv6264670, essv6580380, essv5520441, essv5415033, essv5606436, essv5643827
SamplesHG00559, NA18988, NA18597, NA18949, HG00422, HG00543, HG00629, NA19077, HG00500, HG00619, NA18566, HG00525, NA18634, HG00565, NA18631
Known GenesABCB5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663031
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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