A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614073



Internal ID6654280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:89274120..89277753hg38UCSC Ensembl
Innerchr7:89274620..89277253hg38UCSC Ensembl
Outerchr7:89273120..89278753hg38UCSC Ensembl
chr7:88903434..88907067hg19UCSC Ensembl
Innerchr7:88903934..88906567hg19UCSC Ensembl
Outerchr7:88902434..88908067hg19UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg383634
hg193634
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12882025, essv12882024, essv12882007, essv12882027, essv12882010, essv12882013, essv12882021, essv12882002, essv12882023, essv12882009, essv12882006, essv12881996, essv12882011, essv12881993, essv12882019, essv12882017, essv12881997, essv12882022, essv12881991, essv12881992, essv12881994, essv12882000, essv12882005, essv12881998, essv12882004, essv12882014, essv12882015, essv12881995, essv12882016, essv12882026, essv12882001, essv12882008, essv12882003, essv12882020, essv12881999, essv12882018, essv12882012
SamplesHG03135, NA18861, HG03567, HG02970, HG03129, HG03196, NA19435, HG03133, HG02884, NA20342, NA18865, NA20321, HG01049, HG03103, HG03485, NA12341, NA20340, HG03461, HG01363, NA18934, HG00638, NA19835, HG03166, HG02054, NA20126, NA19024, HG02938, HG02971, HG02502, HG02571, HG03303, HG02481, NA19041, HG03117, HG03515, NA19385, NA19922
Known GenesZNF804B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614073
Frequency
Sample Size2504
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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