A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15740623



Internal ID6639923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75185977..75204222hg38UCSC Ensembl
Innerchr17:75186477..75203722hg38UCSC Ensembl
Outerchr17:75184977..75205222hg38UCSC Ensembl
chr17:73182072..73200317hg19UCSC Ensembl
Innerchr17:73182572..73199817hg19UCSC Ensembl
Outerchr17:73181072..73201317hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3818246
hg1918246
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641261
Supporting Variants
SamplesNA20798
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15740623
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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