A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591148



Internal ID6978476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:67385056..67386151hg38UCSC Ensembl
Innerchr2:67385056..67386151hg38UCSC Ensembl
Outerchr2:67384776..67386501hg38UCSC Ensembl
chr2:67612188..67613283hg19UCSC Ensembl
Innerchr2:67612188..67613283hg19UCSC Ensembl
Outerchr2:67611908..67613633hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg381096
hg191096
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10532541, essv10532540, essv10532547, essv10532543, essv10532544, essv10532546, essv10532545, essv10532536, essv10532538, essv10532534, essv10532537, essv10532550, essv10532548, essv10532542, essv10532549, essv10532533, essv10532539, essv10532535
SamplesNA19394, HG03199, NA19171, HG02811, HG02860, NA20287, HG02885, HG03132, HG02678, HG02976, HG02878, NA19461, NA19256, NA18517, HG02799, NA20362, HG01785, NA18873
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591148
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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