A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587448



Internal ID6627751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:147776078..147927610hg38UCSC Ensembl
chr1:147248189..147399723hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38151533
hg19151535
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10116506
SamplesHG03746
Known GenesGJA8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587448
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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