A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14676004



Internal ID1430380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:26510458..26511213hg38UCSC Ensembl
Innerchr13:26510458..26511213hg38UCSC Ensembl
Outerchr13:26510288..26511333hg38UCSC Ensembl
chr13:27084595..27085350hg19UCSC Ensembl
Innerchr13:27084595..27085350hg19UCSC Ensembl
Outerchr13:27084425..27085470hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg38756
hg19756
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631608
Supporting Variants
SamplesHG01311
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14676004
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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