A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748495



Internal ID9982779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:24607596..24632432hg38UCSC Ensembl
Outerchr14:25076802..25101638hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3824837
hg1924837
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6800493, essv6772327, essv6768696, essv6717059, essv6924587, essv6752749, essv6945243, essv6891495, essv6966214, essv6879660, essv6940605, essv6685312, essv6836587, essv6949352, essv6724739, essv6857611, essv6763538, essv6712610, essv6910240, essv6732384, essv6812402, essv6706431, essv6920470, essv6720951, essv6737264, essv6788038, essv6831565, essv6749863, essv6928138, essv6842703, essv6941084, essv6897827, essv6796289, essv6744201, essv6901561, essv6912859, essv6783827, essv6820013, essv6765913, essv6916352, essv6862690, essv6846146, essv6668340, essv6755763, essv6885246, essv6741299, essv6775945, essv6823892, essv6936425, essv6681835, essv6792118, essv6870908, essv6905138, essv6688866
SamplesSSM010, SSM065, SSM022, SSM027, SSM013, SSM053, SSM006, SSM033, SSM084, SSM099, SSM040, SSM078, SSM043, SSM088, SSM090, SSM064, SSM072, SSM071, SSM016, SSM057, SSM001, SSM024, SSM045, SSM097, SSM062, SSM005, SSM012, SSM093, SSM056, SSM085, SSM017, SSM066, SSM003, SSM095, SSM030, SSM047, SSM069, SSM021, SSM002, SSM034, SSM063, SSM087, SSM019, SSM023, SSM079, SSM052, SSM068, SSM044, SSM015, SSM018, SSM076, SSM058, SSM081, SSM070
Known GenesGZMB, GZMH
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)esv2748495
Frequency
Sample Size96
Observed Gain0
Observed Loss54
Observed Complex0
Frequencyn/a


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