A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730120



Internal ID10313756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:40794435..40794878hg38UCSC Ensembl
Outerchr5:40794537..40794980hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6734195, essv6907258, essv6826144, essv6794420, essv6853353, essv6711633, essv6751400, essv6899500, essv6881223, essv6777946, essv6943101, essv6670757, essv6837210, essv6947580, essv6848746, essv6878426, essv6687048, essv6854872, essv6872536, essv6811108, essv6726901, essv6708197, essv6808213, essv6683791, essv6884009
SamplesSSM100, SSM083, SSM071, SSM024, SSM075, SSM046, SSM011, SSM087, SSM093, SSM042, SSM041, SSM057, SSM023, SSM035, SSM094, SSM031, SSM067, SSM014, SSM086, SSM080, SSM076, SSM091, SSM095, SSM034, SSM049
Known GenesPRKAA1
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)esv2730120
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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