A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11803414



Internal ID6022609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:7238109..7240131hg38UCSC Ensembl
Innerchr5:7238112..7240128hg38UCSC Ensembl
Outerchr5:7238106..7240134hg38UCSC Ensembl
chr5:7238222..7240244hg19UCSC Ensembl
Innerchr5:7238225..7240241hg19UCSC Ensembl
Outerchr5:7238219..7240247hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg382023
hg192023
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603931
Supporting Variants
SamplesNA19434
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11803414
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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