A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588057



Internal ID6628357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179716874..179766076hg38UCSC Ensembl
Innerchr1:179717024..179765926hg38UCSC Ensembl
Outerchr1:179716724..179766226hg38UCSC Ensembl
chr1:179686009..179735211hg19UCSC Ensembl
Innerchr1:179686159..179735061hg19UCSC Ensembl
Outerchr1:179685859..179735361hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3849203
hg1949203
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv64e214
Supporting Variantsessv10200042, essv10200041, essv10200040
SamplesHG03680, NA19917, HG03696
Known GenesFAM163A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588057
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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