A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6570697



Internal ID9624226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:60840313..60846203hg38UCSC Ensembl
chr2:61067448..61073338hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg385891
hg195891
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2664465
Supporting Variants
SamplesNA19334
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6570697
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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