A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13968232



Internal ID2909981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:127013820..127015390hg38UCSC Ensembl
Innerchr10:127013859..127015351hg38UCSC Ensembl
Outerchr10:127013781..127015429hg38UCSC Ensembl
chr10:128812084..128813654hg19UCSC Ensembl
Innerchr10:128812123..128813615hg19UCSC Ensembl
Outerchr10:128812045..128813693hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg381571
hg191571
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624873
Supporting Variants
SamplesHG02577
Known GenesDOCK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13968232
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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