A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671769



Internal ID9591188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:71492936..71496242hg38UCSC Ensembl
Outerchr12:71492565..71496612hg38UCSC Ensembl
Innerchr12:71886716..71890022hg19UCSC Ensembl
Outerchr12:71886345..71890392hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg384048
hg194048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv300e199
Supporting Variantsessv5470915, essv5458198, essv6217055, essv5687748, essv5621094, essv6213481, essv5985104, essv6294464, essv5489234
SamplesNA19704, NA20336, NA19904, NA19917, NA19985, NA19982, NA20281, NA20348, NA20322
Known GenesLGR5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671769
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer