A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15740769



Internal ID5742585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75879126..75883185hg38UCSC Ensembl
Innerchr17:75879173..75883138hg38UCSC Ensembl
Outerchr17:75879079..75883232hg38UCSC Ensembl
chr17:73875207..73879266hg19UCSC Ensembl
Innerchr17:73875254..73879219hg19UCSC Ensembl
Outerchr17:73875160..73879313hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg384060
hg194060
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641268
Supporting Variants
SamplesHG03539
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15740769
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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