A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15742598



Internal ID5744414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76268639..76274458hg38UCSC Ensembl
Innerchr17:76268687..76274411hg38UCSC Ensembl
Outerchr17:76268592..76274506hg38UCSC Ensembl
chr17:74264720..74270539hg19UCSC Ensembl
Innerchr17:74264768..74270492hg19UCSC Ensembl
Outerchr17:74264673..74270587hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg385820
hg195820
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641280
Supporting Variants
SamplesHG00306
Known GenesQRICH2, UBALD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15742598
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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