A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3624779



Internal ID7011629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:122584915..122593721hg38UCSC Ensembl
chr10:124344431..124353237hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg388807
hg198807
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv170e214
Supporting Variantsessv13956556, essv13956570, essv13956565, essv13956563, essv13956572, essv13956569, essv13956566, essv13956562, essv13956568, essv13956567, essv13956561, essv13956559, essv13956558, essv13956557, essv13956571, essv13956560, essv13956564
SamplesHG02002, NA19378, HG03577, HG00689, NA19404, HG02885, NA19172, HG02623, NA19456, NA18541, HG02546, HG01878, NA19085, HG03703, NA19755, HG02805, HG03439
Known GenesDMBT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3624779
Frequency
Sample Size2504
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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