A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675217



Internal ID9941322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:41454284..41454533hg38UCSC Ensembl
chr6:41422022..41422271hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6536755, essv6042390, essv6068622, essv5648397, essv6032651, essv5893833, essv5853495, essv6577145, essv6175346, essv5722190, essv5782825, essv6148175, essv6071043
SamplesNA12717, NA12750, NA18988, NA18940, NA18558, NA11992, NA11918, NA20513, HG00530, NA20505, NA20581, NA12827, NA19102
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675217
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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