A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9876444



Internal ID6501737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:18298940..18336178hg38UCSC Ensembl
Innerchr1:18298940..18336178hg38UCSC Ensembl
Outerchr1:18298440..18336678hg38UCSC Ensembl
chr1:18625434..18662672hg19UCSC Ensembl
Innerchr1:18625434..18662672hg19UCSC Ensembl
Outerchr1:18624934..18663172hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3837239
hg1937239
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585386
Supporting Variants
SamplesHG01464
Known GenesIGSF21
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9876444
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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