A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9916620



Internal ID3247805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40109767..40121702hg38UCSC Ensembl
Innerchr1:40109768..40121702hg38UCSC Ensembl
Outerchr1:40109767..40121703hg38UCSC Ensembl
chr1:40575439..40587374hg19UCSC Ensembl
Innerchr1:40575440..40587374hg19UCSC Ensembl
Outerchr1:40575439..40587375hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3811936
hg1911936
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585799
Supporting Variants
SamplesHG02861
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9916620
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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