A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641413



Internal ID7028187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82004756..82015461hg38UCSC Ensembl
chr17:79962632..79973337hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3810706
hg1910706
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15764858, essv15764851, essv15764863, essv15764862, essv15764864, essv15764854, essv15764860, essv15764850, essv15764852, essv15764859, essv15764855, essv15764856, essv15764853, essv15764849, essv15764861, essv15764857
SamplesHG01860, HG02050, HG00337, HG01702, HG00451, HG01104, HG00428, HG00376, HG01896, HG01700, HG00383, HG00378, HG01085, HG01105, HG01923, HG00437
Known GenesASPSCR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641413
Frequency
Sample Size2504
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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