A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15771132



Internal ID4728541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82842921..82882595hg38UCSC Ensembl
Innerchr17:82842932..82882585hg38UCSC Ensembl
Outerchr17:82842911..82882606hg38UCSC Ensembl
chr17:80800797..80840471hg19UCSC Ensembl
Innerchr17:80800808..80840461hg19UCSC Ensembl
Outerchr17:80800787..80840482hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3839675
hg1939675
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641440
Supporting Variants
SamplesNA06986
Known GenesTBCD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15771132
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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