A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6235812



Internal ID9213215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:216633093..216637199hg38UCSC Ensembl
Outerchr2:216632622..216637569hg38UCSC Ensembl
Innerchr2:217497816..217501922hg19UCSC Ensembl
Outerchr2:217497345..217502292hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg384948
hg194948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2673456
Supporting Variants
SamplesHG00186
Known GenesIGFBP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6235812
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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