A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731961



Internal ID10315597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:40133719..40134591hg38UCSC Ensembl
Outerchr6:40101458..40102330hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38873
hg19873
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6930446, essv6782226, essv6678788, essv6849138, essv6841269, essv6957013, essv6822444, essv6896775, essv6786408, essv6969382, essv6739975, essv6794659, essv6715531, essv6761031, essv6748751, essv6855266, essv6790519, essv6671109, essv6890821, essv6934728, essv6893538, essv6697915, essv6727127, essv6939025, essv6951914
SamplesSSM008, SSM071, SSM046, SSM011, SSM079, SSM038, SSM002, SSM028, SSM084, SSM021, SSM069, SSM026, SSM031, SSM086, SSM068, SSM020, SSM005, SSM022, SSM070, SSM025, SSM099, SSM043, SSM052, SSM098, SSM056
Known Genes
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)esv2731961
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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