A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593395



Internal ID6980719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173932486..173936283hg38UCSC Ensembl
Innerchr2:173932486..173936283hg38UCSC Ensembl
Outerchr2:173932239..173936497hg38UCSC Ensembl
chr2:174797214..174801011hg19UCSC Ensembl
Innerchr2:174797214..174801011hg19UCSC Ensembl
Outerchr2:174796967..174801225hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg383798
hg193798
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10763206, essv10763203, essv10763208, essv10763205, essv10763204, essv10763207
SamplesHG00881, HG00693, NA18567, HG02522, HG02048, HG03006
Known GenesSP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593395
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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