A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606583



Internal ID6993518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122006704..122007787hg38UCSC Ensembl
Innerchr5:122006704..122007787hg38UCSC Ensembl
Outerchr5:122006398..122008168hg38UCSC Ensembl
chr5:121342399..121343482hg19UCSC Ensembl
Innerchr5:121342399..121343482hg19UCSC Ensembl
Outerchr5:121342093..121343863hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg381084
hg191084
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12042844, essv12042828, essv12042829, essv12042839, essv12042831, essv12042841, essv12042827, essv12042820, essv12042845, essv12042822, essv12042834, essv12042836, essv12042835, essv12042830, essv12042826, essv12042825, essv12042842, essv12042818, essv12042833, essv12042821, essv12042817, essv12042832, essv12042846, essv12042840, essv12042837, essv12042838, essv12042843, essv12042824, essv12042819, essv12042823
SamplesHG02574, NA19204, NA18861, NA19914, HG03300, HG02012, HG03455, HG02888, HG03478, HG03464, HG02562, HG03045, HG02427, HG02716, HG02307, HG02508, HG02817, HG03446, NA19257, HG03064, NA18909, HG03240, HG02837, HG02611, NA18865, NA20281, HG03103, NA19328, HG01254, NA19711
Known GenesSRFBP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606583
Frequency
Sample Size2504
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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