A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10412004



Internal ID413820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:12716917..12720166hg38UCSC Ensembl
Innerchr2:12716917..12720166hg38UCSC Ensembl
Outerchr2:12716417..12720666hg38UCSC Ensembl
chr2:12857043..12860292hg19UCSC Ensembl
Innerchr2:12857043..12860292hg19UCSC Ensembl
Outerchr2:12856543..12860792hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg383250
hg193250
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589832
Supporting Variants
SamplesNA21110
Known GenesTRIB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10412004
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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