A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667044



Internal ID2900131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:43071746..43072681hg38UCSC Ensembl
Outerchr17:43071709..43072731hg38UCSC Ensembl
Innerchr17:41223763..41224698hg19UCSC Ensembl
Outerchr17:41223726..41224748hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381023
hg191023
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5562286, essv5749609, essv6478594
SamplesNA19819, NA19374, NA19901
Known GenesBRCA1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667044
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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