A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15604123



Internal ID5605939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7280422..7290803hg38UCSC Ensembl
Innerchr17:7280422..7290803hg38UCSC Ensembl
Outerchr17:7279922..7291303hg38UCSC Ensembl
chr17:7183741..7194122hg19UCSC Ensembl
Innerchr17:7183741..7194122hg19UCSC Ensembl
Outerchr17:7183241..7194622hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3810382
hg1910382
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639863
Supporting Variants
SamplesHG00369
Known GenesSLC2A4, YBX2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15604123
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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