A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15664344



Internal ID5666160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:34993047..34994167hg38UCSC Ensembl
Innerchr17:34993047..34994167hg38UCSC Ensembl
Outerchr17:34992951..34994271hg38UCSC Ensembl
chr17:33320066..33321186hg19UCSC Ensembl
Innerchr17:33320066..33321186hg19UCSC Ensembl
Outerchr17:33319970..33321290hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381121
hg191121
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640436
Supporting Variants
SamplesHG03593
Known GenesLIG3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15664344
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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