A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9912706



Internal ID3966381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:37669905..37673344hg38UCSC Ensembl
Innerchr1:37670405..37672844hg38UCSC Ensembl
Outerchr1:37668905..37674344hg38UCSC Ensembl
chr1:38135577..38139016hg19UCSC Ensembl
Innerchr1:38136077..38138516hg19UCSC Ensembl
Outerchr1:38134577..38140016hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg383440
hg193440
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585758
Supporting Variants
SamplesHG03619
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9912706
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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