A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734945



Internal ID10318581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:102369142..102369528hg38UCSC Ensembl
Outerchr7:102009589..102009975hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38387
hg19387
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6690763, essv6694550, essv6915345, essv6931496, essv6771132, essv6680708, essv6794999, essv6727450, essv6734581, essv6774870, essv6884477, essv6731199, essv6911645, essv6964255
SamplesSSM036, SSM071, SSM027, SSM046, SSM065, SSM047, SSM003, SSM033, SSM066, SSM015, SSM016, SSM037, SSM095, SSM049
Known GenesLOC100289561, LOC100630923
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)esv2734945
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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