A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587195



Internal ID6627502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111655978..111657203hg38UCSC Ensembl
Innerchr1:111655992..111657189hg38UCSC Ensembl
Outerchr1:111655964..111657217hg38UCSC Ensembl
chr1:112198600..112199825hg19UCSC Ensembl
Innerchr1:112198614..112199811hg19UCSC Ensembl
Outerchr1:112198586..112199839hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381226
hg191226
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10069203
SamplesNA20805
Known GenesRAP1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587195
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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