A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9916645



Internal ID1437529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40375034..40406101hg38UCSC Ensembl
Innerchr1:40375034..40406101hg38UCSC Ensembl
Outerchr1:40374938..40406204hg38UCSC Ensembl
chr1:40840706..40871773hg19UCSC Ensembl
Innerchr1:40840706..40871773hg19UCSC Ensembl
Outerchr1:40840610..40871876hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3831068
hg1931068
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585803
Supporting Variants
SamplesHG01325
Known GenesSMAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9916645
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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