A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589577



Internal ID6629866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248845814..248943629hg38UCSC Ensembl
Innerchr1:248845964..248943479hg38UCSC Ensembl
Outerchr1:248845664..248943779hg38UCSC Ensembl
chr1:249140013..249237828hg19UCSC Ensembl
Innerchr1:249140163..249237678hg19UCSC Ensembl
Outerchr1:249139863..249237978hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3897816
hg1997816
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10382385, essv10382390, essv10382386, essv10382388, essv10382391, essv10382387, essv10382389
SamplesNA20868, HG00244, HG00266, HG00179, HG00610, HG01271, HG00246
Known GenesPGBD2, ZNF672, ZNF692
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589577
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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