A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734944



Internal ID10318580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:102328749..102382938hg38UCSC Ensembl
Outerchr7:101969166..102023385hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3854190
hg1954220
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6690763, essv6694550, essv6915345, essv6802813, essv6931496, essv6952245, essv6771132, essv6923384, essv6751849, essv6734580, essv6808674, essv6873033, essv6680708, essv6794999, essv6760282, essv6727450, essv6734581, essv6774870, essv6884477, essv6731199, essv6870035, essv6919191, essv6754804, essv6845218, essv6740273, essv6935082, essv6763642, essv6887273, essv6911645, essv6964255
SamplesSSM036, SSM008, SSM071, SSM027, SSM075, SSM046, SSM065, SSM073, SSM057, SSM058, SSM090, SSM021, SSM047, SSM018, SSM061, SSM096, SSM017, SSM003, SSM033, SSM066, SSM085, SSM015, SSM016, SSM037, SSM091, SSM095, SSM025, SSM052, SSM049
Known GenesLOC100289561, LOC100630923, SPDYE6
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)esv2734944
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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