A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15720510



Internal ID4355936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:62932219..62952486hg38UCSC Ensembl
Innerchr17:62932219..62952486hg38UCSC Ensembl
Outerchr17:62931719..62952986hg38UCSC Ensembl
chr17:61009580..61029847hg19UCSC Ensembl
Innerchr17:61009580..61029847hg19UCSC Ensembl
Outerchr17:61009080..61030347hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3820268
hg1920268
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640980
Supporting Variants
SamplesHG03890
Known GenesMIR548W
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15720510
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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