A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10890732



Internal ID892548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240334941..240436889hg38UCSC Ensembl
chr2:241274358..241376306hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38101949
hg19101949
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594796
Supporting Variants
SamplesHG02836
Known GenesGPC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10890732
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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