A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13829081



Internal ID396412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:58597737..58605335hg38UCSC Ensembl
Innerchr10:58597737..58605335hg38UCSC Ensembl
Outerchr10:58597563..58605488hg38UCSC Ensembl
chr10:60357497..60365095hg19UCSC Ensembl
Innerchr10:60357497..60365095hg19UCSC Ensembl
Outerchr10:60357323..60365248hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg387599
hg197599
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623436
Supporting Variants
SamplesHG00117
Known GenesBICC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13829081
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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