A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731621



Internal ID9965939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:16265427..16266391hg38UCSC Ensembl
Outerchr6:16265658..16266622hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38965
hg19965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6947713, essv6903649, essv6687172, essv6786301, essv6736902, essv6956875, essv6826299, essv6974654, essv6671007, essv6694074, essv6667501, essv6751523, essv6951789, essv6841163, essv6963602, essv6934624, essv6770705, essv6914999
SamplesSSM027, SSM024, SSM065, SSM013, SSM050, SSM057, SSM084, SSM021, SSM069, SSM029, SSM026, SSM035, SSM031, SSM016, SSM080, SSM037, SSM025, SSM030
Known GenesGMPR
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2731621
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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