A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9924602



Internal ID4039286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44078623..44080490hg38UCSC Ensembl
Innerchr1:44078623..44080490hg38UCSC Ensembl
Outerchr1:44078588..44080611hg38UCSC Ensembl
chr1:44544295..44546162hg19UCSC Ensembl
Innerchr1:44544295..44546162hg19UCSC Ensembl
Outerchr1:44544260..44546283hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg381868
hg191868
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585877
Supporting Variants
SamplesHG03687
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9924602
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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