A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664144



Internal ID9583563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:173932535..173936218hg38UCSC Ensembl
Outerchr2:173932378..173936371hg38UCSC Ensembl
Innerchr2:174797263..174800946hg19UCSC Ensembl
Outerchr2:174797106..174801099hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg383994
hg193994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6368240, essv5614828
SamplesHG00693, NA18567
Known GenesSP3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664144
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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