A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9945417



Internal ID6621996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59947795..59949133hg38UCSC Ensembl
Innerchr1:59947798..59949130hg38UCSC Ensembl
Outerchr1:59947792..59949136hg38UCSC Ensembl
chr1:60413467..60414805hg19UCSC Ensembl
Innerchr1:60413470..60414802hg19UCSC Ensembl
Outerchr1:60413464..60414808hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg381339
hg191339
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586194
Supporting Variants
SamplesNA20786
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9945417
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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