A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13968259



Internal ID2592403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:127140510..127151143hg38UCSC Ensembl
Innerchr10:127140510..127151143hg38UCSC Ensembl
Outerchr10:127140010..127151643hg38UCSC Ensembl
chr10:128938774..128949407hg19UCSC Ensembl
Innerchr10:128938774..128949407hg19UCSC Ensembl
Outerchr10:128938274..128949907hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg3810634
hg1910634
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624875
Supporting Variants
SamplesHG02298
Known GenesDOCK1, FAM196A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13968259
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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