A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15664570



Internal ID1809466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:35785984..35797861hg38UCSC Ensembl
Innerchr17:35786134..35797711hg38UCSC Ensembl
Outerchr17:35785834..35798011hg38UCSC Ensembl
chr17:34112988..34124865hg19UCSC Ensembl
Innerchr17:34113138..34124715hg19UCSC Ensembl
Outerchr17:34112838..34125015hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3811878
hg1911878
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640457
Supporting Variants
SamplesHG01682
Known GenesMMP28
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15664570
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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