A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592854



Internal ID6980181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:149056461..149057642hg38UCSC Ensembl
Innerchr2:149056463..149057640hg38UCSC Ensembl
Outerchr2:149056459..149057644hg38UCSC Ensembl
chr2:149912975..149914156hg19UCSC Ensembl
Innerchr2:149912977..149914154hg19UCSC Ensembl
Outerchr2:149912973..149914158hg19UCSC Ensembl
Cytoband2q23.2
Allele length
AssemblyAllele length
hg381182
hg191182
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10708758, essv10708755, essv10708761, essv10708775, essv10708756, essv10708774, essv10708766, essv10708762, essv10708777, essv10708754, essv10708773, essv10708768, essv10708771, essv10708763, essv10708759, essv10708776, essv10708765, essv10708770, essv10708769, essv10708764, essv10708767, essv10708760, essv10708757, essv10708772
SamplesHG03237, HG03963, NA20863, HG03836, HG03706, HG03640, HG02690, NA20889, HG02789, NA20867, HG04054, HG04063, HG03752, HG03774, NA21087, HG04006, HG02700, NA20868, NA20847, NA21101, NA21093, HG04056, HG01583, HG03886
Known GenesLYPD6B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592854
Frequency
Sample Size2504
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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