A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678948



Internal ID9945053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:228894511..228894977hg38UCSC Ensembl
Outerchr2:228894344..228895167hg38UCSC Ensembl
Innerchr2:229759227..229759693hg19UCSC Ensembl
Outerchr2:229759060..229759883hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38824
hg19824
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv765e199
Supporting Variantsessv6351382, essv6568677, essv6364589, essv5416873, essv6404769, essv6532707, essv6505252, essv6358185, essv6595442, essv6521439, essv5899107
SamplesHG00139, HG00232, HG00637, HG00183, HG00328, HG01073, HG00254, HG00638, HG00256, HG00259, HG00310
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678948
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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