A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6284222



Internal ID8918102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47550182..47556052hg38UCSC Ensembl
Outerchr2:47550145..47556102hg38UCSC Ensembl
Innerchr2:47777321..47783191hg19UCSC Ensembl
Outerchr2:47777284..47783241hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg385958
hg195958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2675502
Supporting Variants
SamplesHG00419
Known GenesKCNK12
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6284222
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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