A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15675029



Internal ID823467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41081318..41102698hg38UCSC Ensembl
Innerchr17:41081818..41102198hg38UCSC Ensembl
Outerchr17:41080318..41103698hg38UCSC Ensembl
chr17:39237570..39258950hg19UCSC Ensembl
Innerchr17:39238070..39258450hg19UCSC Ensembl
Outerchr17:39236570..39259950hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3821381
hg1921381
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640572
Supporting Variants
SamplesHG00409
Known GenesKRTAP4-7, KRTAP4-8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15675029
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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