A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733003



Internal ID10316639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:158704574..158705144hg38UCSC Ensembl
Outerchr6:159125606..159126176hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38571
hg19571
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6743278, essv6676698, essv6952024, essv6711954, essv6782329, essv6786512, essv6849322, essv6708550, essv6727235, essv6884334, essv6778317, essv6808535, essv6822559, essv6701228, essv6687360, essv6715653, essv6939143, essv6694290, essv6794781, essv6719568, essv6826537, essv6698015
SamplesSSM071, SSM075, SSM046, SSM079, SSM038, SSM039, SSM042, SSM041, SSM069, SSM035, SSM032, SSM067, SSM044, SSM086, SSM068, SSM053, SSM080, SSM037, SSM022, SSM095, SSM025, SSM043
Known GenesSYTL3
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)esv2733003
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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