A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6127493



Internal ID9625067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:161145214..161145940hg38UCSC Ensembl
chr2:162001725..162002451hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38727
hg19727
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2670224
Supporting Variants
SamplesNA19338
Known GenesTANK
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6127493
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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