A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591680



Internal ID6631964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:96032290..96059786hg38UCSC Ensembl
Innerchr2:96032290..96059786hg38UCSC Ensembl
Outerchr2:96031790..96060286hg38UCSC Ensembl
chr2:96698038..96725534hg19UCSC Ensembl
Innerchr2:96698038..96725534hg19UCSC Ensembl
Outerchr2:96697538..96726034hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3827497
hg1927497
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10588985, essv10588988, essv10588987, essv10588989, essv10588983, essv10588986, essv10588982, essv10588984
SamplesNA18546, NA19068, NA18986, NA19434, HG00448, NA18577, NA19064, HG00684
Known GenesGPAT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591680
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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