A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9895143



Internal ID1440786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:29610033..29618494hg38UCSC Ensembl
Innerchr1:29610033..29618494hg38UCSC Ensembl
Outerchr1:29609533..29618994hg38UCSC Ensembl
chr1:30082880..30091341hg19UCSC Ensembl
Innerchr1:30082880..30091341hg19UCSC Ensembl
Outerchr1:30082380..30091841hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg388462
hg198462
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585606
Supporting Variants
SamplesHG01326
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9895143
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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