A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735446



Internal ID9969776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:152403478..152404140hg38UCSC Ensembl
Outerchr7:152100563..152101225hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38663
hg19663
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6771195, essv6855807, essv6935146, essv6873093, essv6841614, essv6680769, essv6915405, essv6927168, essv6943885, essv6878905, essv6904082, essv6782600, essv6887338, essv6930860, essv6975482, essv6964356, essv6671707, essv6822806, essv6676968, essv6911709, essv6715907, essv6778606, essv6939427, essv6805768, essv6731256, essv6957654
SamplesSSM065, SSM022, SSM027, SSM013, SSM091, SSM033, SSM084, SSM043, SSM031, SSM020, SSM016, SSM032, SSM067, SSM093, SSM029, SSM047, SSM021, SSM087, SSM019, SSM096, SSM023, SSM079, SSM068, SSM074, SSM015, SSM026
Known GenesKMT2C
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)esv2735446
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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