A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15704950



Internal ID6749655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:56569139..56576173hg38UCSC Ensembl
Innerchr17:56569187..56576125hg38UCSC Ensembl
Outerchr17:56569091..56576221hg38UCSC Ensembl
chr17:54646500..54653534hg19UCSC Ensembl
Innerchr17:54646548..54653486hg19UCSC Ensembl
Outerchr17:54646452..54653582hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg387035
hg197035
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640855
Supporting Variants
SamplesNA20864
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15704950
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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