A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600471



Internal ID6987514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:48920462..48923308hg38UCSC Ensembl
Innerchr4:48920512..48923258hg38UCSC Ensembl
Outerchr4:48920345..48923425hg38UCSC Ensembl
chr4:48922479..48925325hg19UCSC Ensembl
Innerchr4:48922529..48925275hg19UCSC Ensembl
Outerchr4:48922362..48925442hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg382847
hg192847
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11429696, essv11429684, essv11429697, essv11429693, essv11429692, essv11429665, essv11429673, essv11429681, essv11429669, essv11429690, essv11429680, essv11429676, essv11429674, essv11429689, essv11429664, essv11429701, essv11429675, essv11429691, essv11429682, essv11429678, essv11429670, essv11429699, essv11429668, essv11429679, essv11429672, essv11429703, essv11429706, essv11429705, essv11429694, essv11429702, essv11429686, essv11429671, essv11429687, essv11429704, essv11429667, essv11429688, essv11429677, essv11429662, essv11429666, essv11429700, essv11429683, essv11429685, essv11429695, essv11429663, essv11429698, essv11429707
SamplesHG01918, HG02272, NA19664, HG01326, HG02150, HG01374, HG01947, HG02285, NA18988, NA19728, HG01277, HG01968, HG02266, NA19771, NA19782, HG01455, NA19720, HG02003, HG01284, HG01973, HG02260, HG01942, HG01139, HG01136, HG02265, HG01435, HG01938, NA19658, NA19776, NA19774, NA19000, NA19740, HG02089, HG02304, HG01375, HG01951, HG01137, NA19741, HG01991, NA19759, HG01432, HG01377, HG01920, HG01923, HG01061, NA19676
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600471
Frequency
Sample Size2504
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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