A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673132



Internal ID9592551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140843781..140848737hg38UCSC Ensembl
Outerchr5:140843410..140849107hg38UCSC Ensembl
Innerchr5:140223366..140228322hg19UCSC Ensembl
Outerchr5:140222995..140228692hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg385698
hg195698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1044e199
Supporting Variantsessv6183364, essv6251486, essv5868476, essv6220191, essv5626772, essv5829282, essv6141576, essv6144825, essv5910032, essv6034327, essv6255103, essv6288675, essv6469392, essv6147567, essv5680315, essv6571020, essv5695974, essv5910493, essv6131117, essv6304709, essv6566011, essv5743580
SamplesNA19394, NA19466, NA19359, NA19393, NA19443, NA19396, NA19381, NA19319, NA19315, NA19471, NA19445, NA19327, NA19455, NA19453, NA19469, NA19318, NA19444, NA19439, NA19467, NA19328, NA19468, NA19463
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673132
Frequency
Sample Size1151
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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