A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6213297



Internal ID9190700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:132422385..132423273hg38UCSC Ensembl
Outerchr2:132422228..132423426hg38UCSC Ensembl
Innerchr2:133179958..133180846hg19UCSC Ensembl
Outerchr2:133179801..133180999hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg381199
hg191199
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2663222
Supporting Variants
SamplesNA18873
Known GenesGPR39
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6213297
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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