A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668258



Internal ID9587677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140844081..140849387hg38UCSC Ensembl
Outerchr5:140843360..140849907hg38UCSC Ensembl
Innerchr5:140223666..140228972hg19UCSC Ensembl
Outerchr5:140222945..140229492hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg386548
hg196548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1044e199
Supporting Variantsessv5476510, essv5781137, essv6567923, essv6544698, essv6122068, essv6541901, essv6046308, essv5955556, essv6145822, essv5416042, essv5685647, essv5920835, essv5491257, essv5797956, essv5466243, essv5634574, essv5870233, essv6255394, essv5536327, essv6131185, essv6162360, essv6124158, essv6519224, essv5910293, essv5736256, essv5990160, essv5590265, essv6307291, essv6294221, essv6333095, essv5801028, essv6114109
SamplesNA20766, NA10851, NA11920, NA20816, NA20813, NA12341, NA12287, NA12282, NA20819, NA20535, NA12489, NA11919, NA12829, NA11894, NA12827, NA12778, NA12716, NA20778, NA20504, NA20516, NA07037, NA12347, NA12749, NA20786, NA20528, NA20503, NA20502, NA07056, NA20585, NA12154, NA12776, NA11832
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668258
Frequency
Sample Size1151
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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