A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10588989



Internal ID590805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:96032290..96059786hg38UCSC Ensembl
Innerchr2:96032290..96059786hg38UCSC Ensembl
Outerchr2:96031790..96060286hg38UCSC Ensembl
chr2:96698038..96725534hg19UCSC Ensembl
Innerchr2:96698038..96725534hg19UCSC Ensembl
Outerchr2:96697538..96726034hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3827497
hg1927497
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591680
Supporting Variants
SamplesNA19434
Known GenesGPAT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10588989
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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