A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15668080



Internal ID1438188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37418841..37422296hg38UCSC Ensembl
Innerchr17:37418991..37422146hg38UCSC Ensembl
Outerchr17:37418690..37422446hg38UCSC Ensembl
chr17:35778925..35782402hg19UCSC Ensembl
Innerchr17:35779075..35782252hg19UCSC Ensembl
Outerchr17:35778775..35782552hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg383456
hg193478
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640496
Supporting Variants
SamplesHG01325
Known GenesTADA2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15668080
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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