A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15674566



Internal ID5676382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40994003..40999687hg38UCSC Ensembl
Innerchr17:40994003..40999687hg38UCSC Ensembl
Outerchr17:40993670..41000001hg38UCSC Ensembl
chr17:39150255..39155939hg19UCSC Ensembl
Innerchr17:39150255..39155939hg19UCSC Ensembl
Outerchr17:39149922..39156253hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg385685
hg195685
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640563
Supporting Variants
SamplesHG01942
Known GenesKRTAP3-2, KRTAP3-3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15674566
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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