A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15648302



Internal ID3438883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:20244623..20302196hg38UCSC Ensembl
Innerchr17:20244623..20302196hg38UCSC Ensembl
Outerchr17:20244123..20302696hg38UCSC Ensembl
chr17:20147936..20205509hg19UCSC Ensembl
Innerchr17:20147936..20205509hg19UCSC Ensembl
Outerchr17:20147436..20206009hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3857574
hg1957574
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640195
Supporting Variants
SamplesHG03072
Known GenesSPECC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15648302
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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