A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9890699



Internal ID3053913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:24236857..24241199hg38UCSC Ensembl
Innerchr1:24236886..24241171hg38UCSC Ensembl
Outerchr1:24236829..24241228hg38UCSC Ensembl
chr1:24563347..24567689hg19UCSC Ensembl
Innerchr1:24563376..24567661hg19UCSC Ensembl
Outerchr1:24563319..24567718hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg384343
hg194343
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585499
Supporting Variants
SamplesHG02685
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9890699
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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