A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660413



Internal ID9579832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:63909044..63917850hg38UCSC Ensembl
Outerchr11:63908673..63918220hg38UCSC Ensembl
Innerchr11:63676516..63685322hg19UCSC Ensembl
Outerchr11:63676145..63685692hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg389548
hg199548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6274845, essv5524984, essv5863554, essv6033262, essv6379101, essv6336808, essv5636963, essv6512202, essv6411712, essv6220562, essv6352610, essv5856274, essv6157787, essv5491811, essv6284064, essv6141433, essv6402965, essv6539521, essv5761989, essv5960938, essv6538576, essv5443745, essv5645460, essv6551121, essv6440469, essv5718584, essv6546492, essv6278777, essv5860186, essv5676800, essv6012384, essv5892953, essv6227455, essv6049723, essv6571164, essv6289816, essv6084787, essv6208134, essv5992169, essv6516583, essv6428876, essv6565573, essv5603653, essv6363072, essv5430804, essv5983951, essv6077445, essv5857981, essv6152722, essv6112347, essv6444474, essv6170109, essv5499761, essv5474894, essv6071572, essv5805430
SamplesHG00626, HG00403, HG00650, HG00542, HG00442, HG00524, HG00699, HG00449, HG00663, HG00589, HG00501, HG00448, HG00610, HG00537, HG00512, HG00683, HG00422, HG00427, HG00419, HG00543, HG00560, HG00629, HG00443, HG00596, HG00557, HG00428, HG00701, HG00475, HG00556, HG00584, HG00583, HG00692, HG00690, HG00404, HG00531, HG00479, HG00684, HG00613, HG00525, HG00704, HG00611, HG00476, HG00625, HG00580, HG00473, HG00662, HG00418, HG00707, HG00513, HG00578, HG00478, HG00421, HG00656, HG00472, HG00628, HG00437
Known GenesMARK2, RCOR2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660413
Frequency
Sample Size1151
Observed Gain0
Observed Loss56
Observed Complex0
Frequencyn/a


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