A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10412900



Internal ID3878468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:13710823..13760883hg38UCSC Ensembl
Innerchr2:13710823..13760883hg38UCSC Ensembl
Outerchr2:13710323..13761383hg38UCSC Ensembl
chr2:13850948..13901008hg19UCSC Ensembl
Innerchr2:13850948..13901008hg19UCSC Ensembl
Outerchr2:13850448..13901508hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3850061
hg1950061
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589855
Supporting Variants
SamplesHG03520
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10412900
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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