A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15680772



Internal ID2949993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44578936..44594726hg38UCSC Ensembl
Innerchr17:44578936..44594726hg38UCSC Ensembl
Outerchr17:44578436..44595226hg38UCSC Ensembl
chr17:42656304..42672094hg19UCSC Ensembl
Innerchr17:42656304..42672094hg19UCSC Ensembl
Outerchr17:42655804..42672594hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3815791
hg1915791
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640650
Supporting Variants
SamplesHG02604
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15680772
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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