A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589808



Internal ID6977138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10745502..10753410hg38UCSC Ensembl
chr2:10885628..10893536hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg387909
hg197909
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10406998, essv10406999, essv10406992, essv10406990, essv10407002, essv10407005, essv10407004, essv10407001, essv10407000, essv10406991, essv10407007, essv10406994, essv10406996, essv10407006, essv10406995, essv10406993, essv10406997, essv10407003
SamplesNA18999, HG00244, NA20796, HG02153, HG01945, NA18574, NA18571, HG02090, HG00701, HG02076, NA18939, NA18646, HG02139, HG02019, HG02188, HG00620, NA11892, NA19065
Known GenesATP6V1C2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589808
Frequency
Sample Size2504
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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