A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15722587



Internal ID963142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63848706..63849774hg38UCSC Ensembl
Innerchr17:63848706..63849774hg38UCSC Ensembl
Outerchr17:63848441..63850057hg38UCSC Ensembl
chr17:61926066..61927134hg19UCSC Ensembl
Innerchr17:61926066..61927134hg19UCSC Ensembl
Outerchr17:61925801..61927417hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg381069
hg191069
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641007
Supporting Variants
SamplesHG00593
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15722587
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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