A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593375



Internal ID6633655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172838088..172839719hg38UCSC Ensembl
Innerchr2:172838090..172839718hg38UCSC Ensembl
Outerchr2:172838087..172839721hg38UCSC Ensembl
chr2:173702816..173704447hg19UCSC Ensembl
Innerchr2:173702818..173704446hg19UCSC Ensembl
Outerchr2:173702815..173704449hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381632
hg191632
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10762765, essv10762763, essv10762762, essv10762768, essv10762761, essv10762759, essv10762760, essv10762766, essv10762764, essv10762767, essv10762769
SamplesHG03514, HG02541, HG03209, HG02143, HG03081, HG02014, NA18856, HG01101, HG01956, NA20276, HG03077
Known GenesRAPGEF4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593375
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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