A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13963252



Internal ID1578425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:124498717..124503896hg38UCSC Ensembl
Innerchr10:124499217..124503396hg38UCSC Ensembl
Outerchr10:124497717..124504896hg38UCSC Ensembl
chr10:126187286..126192465hg19UCSC Ensembl
Innerchr10:126187786..126191965hg19UCSC Ensembl
Outerchr10:126186286..126193465hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg385180
hg195180
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624812
Supporting Variants
SamplesHG01461
Known GenesLHPP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13963252
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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