A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11712771



Internal ID6811145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:175023730..175270174hg38UCSC Ensembl
Innerchr4:175023759..175270146hg38UCSC Ensembl
Outerchr4:175023702..175270203hg38UCSC Ensembl
chr4:175944881..176191325hg19UCSC Ensembl
Innerchr4:175944910..176191297hg19UCSC Ensembl
Outerchr4:175944853..176191354hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38246445
hg19246445
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603242
Supporting Variants
SamplesNA20895
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11712771
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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