A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15721979



Internal ID5723795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63526371..63539713hg38UCSC Ensembl
Innerchr17:63526371..63539713hg38UCSC Ensembl
Outerchr17:63526276..63539764hg38UCSC Ensembl
chr17:61603732..61617074hg19UCSC Ensembl
Innerchr17:61603732..61617074hg19UCSC Ensembl
Outerchr17:61603637..61617125hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg3813343
hg1913343
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640998
Supporting Variants
SamplesNA18574
Known GenesKCNH6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15721979
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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